Rare Disease Briefing Document

OTS Rare Disease N-of-1+ Workshop Briefing Document

This briefing document aims to outline the current state of the art of oligonucleotide therapies for those planning to develop individualized therapies for patients with very rare diseases or mutations. The focus is on approved modalities and tissues for which good delivery of oligonucleotides has been confirmed in humans. We believe development of individualized therapies should build on those approaches.

As the oligonucleotide therapy field is dynamic, this document will be dynamic as well. Initially we had planned a meeting to discuss outstanding issues in spring 2020. Currently due to the COVID-19 pandemic, this is not feasible. However, we still believe that a discussion about this topic is timely. We therefore welcome input and comments from the oligonucleotide therapy field in the comment box. This will initiate an online discussion now, and will help us to update this document as needed and also plan for a stakeholder meeting to discuss outstanding issues with those involved (scientists, regulators, patients and funders) in 2021.